Phenotype #0000172996

Individual ID 00229790
Associated disease EIEE
Phenotype details does not walk; no speech; comprehension limited; regression after seizures; severe DD or ID; 10w-onset seizures (focal, sec. generalized; later status epilepticus); MRI thin corpus callosum, cerebellar hypoplasia, prominent opercula, later cortical atrophy; truncal hypotonia; hypertonia limbs; no movement disorder; stereotypic hand movements; no behavioral anomalies ; sparse eyebrows, deep-set eyes, depressed nasal root, slightly low insertion of columella; hemiparesis after status epilepticus
Diagnosis/Initial early infantil epileptic encephalopathy
Inheritance Isolated (sporadic)
Diagnosis/Definite EIEE-64
Age/Examination 11y (11 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Intellectual_dis -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2019-04-10 22:37:14 +02:00 (CEST)
Date last edited N/A

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